Detalhe da pesquisa
1.
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.
Am J Hum Genet
; 111(5): 896-912, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653249
2.
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.
Hum Mol Genet
; 32(14): 2318-2325, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070740
3.
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Hum Reprod
; 39(5): 1131-1140, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511217
4.
Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD.
Mol Ther
; 31(12): 3424-3440, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705244
5.
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Hepatol Res
; 53(11): 1134-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491771
6.
Quantitative assessment of copy number alterations by liquid biopsy for neuroblastoma.
Genes Chromosomes Cancer
; 61(11): 662-669, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35655408
7.
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.
Reprod Med Biol
; 22(1): e12504, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845002
8.
CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA.
J Biol Chem
; 297(4): 101213, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547289
9.
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1.
J Hum Genet
; 67(11): 675-678, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970985
10.
Direct platelet adhesion potentiates group 2 innate lymphoid cell functions.
Allergy
; 77(3): 843-855, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402091
11.
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
J Med Genet
; 58(6): 427-432, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576657
12.
ZFAT binds to centromeres to control noncoding RNA transcription through the KAT2B-H4K8ac-BRD4 axis.
Nucleic Acids Res
; 48(19): 10848-10866, 2020 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32997115
13.
Exploring trophoblast-specific Tead4 enhancers through chromatin conformation capture assays followed by functional screening.
Nucleic Acids Res
; 48(1): 278-289, 2020 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31777916
14.
Characteristics of genetic alterations of peripheral T-cell lymphoma in childhood including identification of novel fusion genes: the Japan Children's Cancer Group (JCCG).
Br J Haematol
; 194(4): 718-729, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258755
15.
Epitranscriptomic profiling in human placenta: N6-methyladenosine modification at the 5'-untranslated region is related to fetal growth and preeclampsia.
FASEB J
; 34(1): 494-512, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914637
16.
Maintenance of mouse trophoblast stem cells in KSR-based medium allows conventional 3D culture.
J Reprod Dev
; 67(3): 197-205, 2021 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33746143
17.
Deleterious fibronectin type III-related gene variants may induce a spinal extradural arachnoid cyst: an exome sequencing study of identical twin cases.
Childs Nerv Syst
; 37(7): 2329-2334, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772355
18.
Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing.
Reprod Med Biol
; 20(3): 352-360, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34262404
19.
Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
Am J Med Genet A
; 182(4): 735-739, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880411
20.
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
J Med Genet
; 56(6): 413-418, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242100